Canonical Allele Identifier: CA1761188674
Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1806595424
gnomAD v4: 8-6877907-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6877907C>T , CM000670.2:g.6877907C>T GRCh38
NC_000008.10:g.6735429C>T , CM000670.1:g.6735429C>T GRCh37
NC_000008.9:g.6722839C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000297439.4:c.-50G>A MANE Select ENSP00000297439.3:n.-50G>A
ENST00000297439.3:c.-50G>A ENSP00000297439.3:n.-50G>A
NM_005218.3:c.-50G>A NP_005209.1:n.-50G>A
NM_005218.4:c.-50G>A MANE Select NP_005209.1:n.-50G>A